High Speed Genetic Testing Technology and the Computerization of the Medical Record

Abstract

The Human Genome Project—a three billion dollar, fifteen year effort to map and sequence the human genome1—was begun in 1990 and is presently estimated to be ahead of schedule. The base-pair by base-pair sequencing of the entire three billion bases of the human genome is within reach within the next five years. The phenomenal success of the project in meeting and surpassing its goals is largely due to advances in sequencing technologies and informatics. Indeed, the standard genomic sequencing technologies are largely automated and computer assisted (Gibbs, 1995). In addition, the analysis of raw genetic sequence, and its integration with maps of the various chromosomes is largely a project in informatics, the results of which are freely available over the World Wide Web. The purposes of this massive, industrial strength science project, are manifold. Besides providing the building blocks for answering questions about the ontogeny of the human organism, how the human species has diverged both from its evolutionary precursors as well as how individual races and ethnic groups have diverged genetically2, the Human Genome Project promises to revolutionize the practice of medicine and is already revolutionizing the strategies of biomedical research (Watson, 1992).3 It is this latter promise that is probably the most compelling reason that the United States Congress was willing to invest $200 million a year in this project.